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Leukoencephalopathy with bilateral anterior temporal lobe cysts

ORPHA:139444 · Disease · Disorder

HPO 表現型（共 14 項）

Very frequent (99-80%)(6)

  • Global developmental delayHP:0001263
  • Intellectual disabilityHP:0001249
  • Intracranial cystic lesionHP:0010576
  • LeukoencephalopathyHP:0002352
  • Lower limb spasticityHP:0002061
  • Motor delayHP:0001270

Frequent (79-30%)(8)

  • Absent speechHP:0001344
  • Axial hypotoniaHP:0008936
  • Babinski signHP:0003487
  • ClonusHP:0002169
  • Functional motor deficitHP:0004302
  • MicrocephalyHP:0000252
  • Sensorineural hearing impairmentHP:0000407
  • StrabismusHP:0000486